Lens subluxation combined with parry-romberg syndrome: case report.

BACKGROUND: Parry-Romberg syndrome (PRS) is a rare progressive degenerative disorder of unknown etiology. Here we report a rare case of PRS combined with lens subluxation in Eye and ENT hospital of Fudan University, Shanghai. To our knowledge, it is the first reported case of PRS combined with lens subluxation that has been managed surgically with phacoemulsification and CTR placement and IOL implantation in Shanghai. CASE PRESENTATION: A 60-year-old woman was referred for "right visual blur for 2 years" and had persistent right facial paralysis of unknown etiology since the age 12. She had right facial muscle atrophy and paralysis. Eye examination also showed the right eyelid pseudoptosis, enophthalmos, age-related cataract combined with lens subluxation existed in the right eye. The patient was diagnosed as age-related cataract and lens subluxation in the right eye and progressive hemifacial atrophy (Parry-Romberg syndrome). We conducted a combined phacoemulsification, IOL and CTR implantation and pupilloplasty surgery for the patient under general anesthesia and the postoperative UCVA was 20/30 and remained for 1 year's follow up. CONCLUSIONS: Here we reported a rare case of PHA combined with lens subluxation in China. After appropriate eye surgery, the patient achieved satisfying vision result in the right eye.

A case report of Parry-Romberg syndrome.

Key Clinical Message: Parry-Romberg syndrome is characterized by progressive dystrophy in one half of the face, which usually begins in childhood. Correct and timely diagnosis of this disease, as well as a multidisciplinary approach and timely surgical treatment to minimize the psychological effects and improve the patient's appearance are of particular importance. Abstract: Parry-Romberg syndrome is characterized by progressive dystrophy or loss of subcutaneous tissue in one half of the face, which usually begins in childhood and continues with skin changes, and can also be associated with linear scleroderma. Although this disease has been known for more than 150 years, its exact cause and pathogenesis are not well understood. The clinical feature of Parry-Romberg syndrome that makes it possible to diagnose is unilateral idiopathic facial atrophy. The reported case is a 14-year-old boy who suffered from hemifacial atrophy of the frontal area since he was 7 years old was referred to a plastic and cosmetic surgery specialist and underwent surgery without systemic symptoms and in the inactive phase of the disease. Correct and timely diagnosis of this disease, as well as a multidisciplinary approach and timely and appropriate surgical treatment to minimize the psychological effects and improve the patient's appearance are of particular importance.

Hemimasticatory spasm: a series of 17 cases and a comprehensive review of the literature.

Hemimasticatory spasm (HMS) is a rare movement disorder characterized by paroxysmal spasms or twitches of the unilateral jaw-closing muscles. This study aimed to comprehensively evaluate the clinical features of patients with HMS. Data from 17 patients newly diagnosed with HMS (12 females and 5 males; mean age at onset: 46.7 years) who visited our department were retrospectively analyzed, and a literature search based on electronic medical databases from their inception until November 30, 2023, was conducted. A manual search was conducted for articles cited in the related literature. A total of 117 cases (72 females and 45 males; mean age at onset: 37.1 years) from 57 studies were analyzed. The muscles involved were the masseter (97.4%), temporalis (47.9%), and medial pterygoid (6%). Morphea or scleroderma was observed in 23.9% of the patients, and facial hemiatrophy in 27.4%. In 17.9% of the cases, Parry-Romberg syndrome was either complicated or suspected. Typical electromyographic findings included the absence of a silent period during spasms (23.9%) and irregular brief bursts of multiple motor unit potentials. Oral medicines, such as clonazepam or carbamazepine, alleviated the symptoms for some patients but were often unsatisfactory. Botulinum toxin therapy was effective in most cases. Recently, microvascular decompression surgery is increasingly being used, resulting in complete relief in some cases. In conclusion, highly effective modalities are currently available, and it is necessary to raise awareness of HMS to ensure that it can be diagnosed and treated accurately by both medical and dental professionals.

Damage evaluation of craniofacial localized scleroderma using magnetic resonance imaging.

Background: Localized scleroderma (LoS) is an autoimmune disease in which craniofacial lesions can cause severe facial deformities with brain involvement. Objective evaluation of craniofacial LoS is challenging. Magnetic resonance imaging (MRI) may be used as a damage assessment tool. This study aimed to analyze the tissue involvement of craniofacial LoS based on MRI and evaluate MRI for craniofacial LoS assessment. Methods: This cross-sectional study included patients with craniofacial LoS from September 2021 to August 2022 in Peking Union Medical College Hospital. Patients who were clinically assessed in a stable phase were enrolled; patients with previous surgical treatment or contraindications to MRI were excluded. Participants underwent clinical, MRI, and ultrasound assessments. MRI was compared with ultrasound by correlation analysis and Bland-Altman analysis. The involvement of different tissues and different facial subunits was compared. The accumulated soft tissue atrophy index (ASTAI) was compared with clinical scores by correlation analysis. Results: A total of 28 patients were included (13 female; mean age, 18 years). MRI showed a good correlation and agreement with ultrasound (r=0.916, P<0.001). In different facial subunits, a significant negative correlation between the forehead and chin was found (r=-0.593, P=0.001). The ASTAI correlated well with the facial LoS damage index (r=0.580, P=0.001) and the Peking Union Medical College LoS facial aesthetic index (PUMC LoSFAI) (r=0.921, P<0.001). A total of 38.6% of clinical scores were inaccurate based on MRI. Neurological changes were found in one patient. Conclusions: MRI can reliably quantify damage in craniofacial LoS, and may serve as a useful and objective tool for overall craniofacial LoS evaluation.

Application of free serratus anterior muscle-fascial composite tissue flap and facial lipofilling in repairing progressive hemifacial atrophy.

INTRODUCTION: Progressive hemifacial atrophy (PHA) is a nonnegligible disease, and its treatment currently lacks consensus. We aim to conduct an analysis of PHA patients to summarize the postoperative effect. Moreover, we introduced the free serratus anterior muscle-fascial composite tissue flap as a safe and novelty surgical procedure for moderate-severe PHA. METHODS: This clinical study included four patients who received a free serratus anterior muscle-fascial composite tissue flap and 19 patients who received Coleman fat transplantation. Preoperative (preoperative photograph and imageological examination) and postoperative (postoperative photograph, complications, therapeutic effect, and satisfaction) assessments were performed for all PHA patients. Body Image Concern Inventory (BICI), Self-rating Anxiety Scale (SAS), Self-rating Depression Scale (SDS) were performed preoperatively and postoperatively. RESULTS: All the cases were cured with a good appearance with two kinds of operations. Free serratus anterior muscle-fascial composite tissue flap could correct face defects in one surgery and achieve good long time and short-time postoperative satisfaction in moderate-severe PHA. Fat transplantation could also enhance appearance in numerous operations for mild-moderate PHA. The volume of free-fat grafts decreased obviously after implantation in many cases. So, many patients (42.11%) accepted a series of operations to achieve satisfied postoperative effect. BICI, SAS, SDS score decreased a year later in all patients. CONCLUSION: Free serratus anterior muscle-fascial composite tissue flap transplantation is an effective and safe treatment for moderate to severe PHA.

Parry-Romberg Syndrome: Successful Result in a Single Procedure Combining Silicone Implant and Structural Fat Grafting for Severe Facial Deformity.

Background: Parry-Romberg syndrome (PRS) is an enigmatic and acquired degenerative condition. It is characterized by a gradual and progressive facial hemiatrophy, after which facial deformities appear unexpectedly in a stable state. The degree of disfigurement depends on tissue involvement, illness onset, and duration. Nowadays, non-invasive treatments with lower morbidity, such as structured fat grafting (SFG) are preferred over traditional operations such as free flaps and bone grafts. However, for severe cases of PRS, multiple sessions of SFG are required. Case study: Despite the therapeutic failure that a 20-year-old lady had suffered after five previous conventional surgical procedures, the outcome was successful after only one surgical therapy employing a particular combination of SFG and malar silicone elastomers implant (SI). Conclusion: The author highlights the interest in a combination of non-invasive procedures using SFG and malar augmentation with SI to repair large volume loss while improving symmetry and skin texture. Otherwise, the role of adipose-derived stem cells in fat survival is crucial and should be the focus of future studies and the key to technological advancement.

Recurrent cryptogenic strokes in a young female as a novel presentation of Parry Romberg syndrome: a case report and review.

INTRODUCTION: Parry Romberg Syndrome (PRS) is a less common genetic condition presenting with progressive hemifacial atrophy involving skin, underlying connective tissue, muscle and facial bone. Neurological manifestations include seizures, headaches, deafness and trigeminal neuralgia refractory to medications, while stroke is a less common presentation. MATERIALS AND METHODS: A 43-year-old right-handed female with previous history of Lower Motor Neuron (LMN) type facial palsy, seizure disorder and linear scleroderma, presented to our clinic with recurrent cryptogenic strokes. She developed progressive hemifacial atrophy on the left side and left eye ectropion and was eventually diagnosed with rare Parry Romberg Syndrome. RESULTS: Patient underwent extensive work up for stroke to rule out etiologies like hyperlipidemia, diabetes, lupus and vasculitis. Peripheral labs for inflammatory markers and Cerebrospinal fluid (CSF) studies were unremarkable. Brain imaging at different points in time showed progressive atrophy of brain parenchyma, overlying bone, connective tissue and facial muscles on the left side. Central Nervous System (CNS) vessel imaging and diagnostic cerebral angiogram was unremarkable. CONCLUSION: This novel case underscores the potential CNS involvement in PRS, which is a rare disease entity. Neurological manifestations are not uncommon, including stroke. Further research is needed to understand the mechanisms of stroke in this rare disease process, that could help develop potential therapeutic targets.

Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting.

Parry Romberg syndrome (PRS) is an acquired neurocutaneous syndrome with uncertain pathophysiology, and its incidence is unknown. Usually, the disease becomes apparent during the first decade of life or early during the second decade, but it can also occur in adulthood, and it is more common in females. The main feature is slowly progressive hemiatrophy (thinning or shrinkage) of the facial tissues, typically fat, skin, connective tissues, muscle, and sometimes bone. In some people, atrophy may also affect the trunk and the limbs. Additional symptoms can potentially develop in some patients, including ophthalmological, psychiatric, and neurological complications. The clinical presentation serves as a guide for the diagnosis. Treatment can demand a multidisciplinary approach (maxillofacial surgeons, plastic surgeons, ophthalmologists, neurologists, dermatologists, psychiatrists, anesthetists, and family doctors). Patients can undergo restorative plastic surgery to improve their appearance, with highly variable success rates. We present a case report of a 52-year-old man who made an appointment at the family care unit (FCU) because of a left facial hemiatrophy that started progressing two to three months before, and he was afraid it might be cancer. At the physical exam, it was possible to examine a slight hemiatrophy in two different parts of the left side of the patient's face (the nasolabial-masseter region and the temporal-malar region). The facial CT scan showed a low degree of maxillary bone resorption. Through discussion with peers on the Family Doctor team, the diagnosis of a rare condition in the primary care setting was made possible. This case shows the importance of being aware of a rare disease despite working as a family physician and aims to make more people familiar with this syndrome. It also raises awareness about the need for discussion of clinical cases as a team.

Quantifying outcomes of autologous fat transplantation in different facial deformities: A systemic review and meta-analysis.

BACKGROUND: Autologous fat transplantation has become a common treatment for facial deformities. However, facial deformities are the result of complex diseases with different causes, and there has been no review on the effectiveness of autologous fat transplantation for facial deformities of different aetiologies. METHODS: A systematic literature search of the Web of Science, Embase, and Medline Ovid databases was performed up to December 2022. Two investigators independently performed screening and data extraction according to Preferred Reporting Items for Systematic Reviews and Meta-analysis guidelines, followed by a meta-analysis using random-effects model for surgeon and patient satisfaction, facial symmetry, and complication rates. Twelve-month postoperative fat graft retention was estimated by meta-regression. RESULTS: Thirty-one studies met the criteria, including 13 case series studies, 14 cohort studies, and four randomized clinical trials, with a total of 1572 patients. Follow-up visits within 6-12 months were performed in most of the studies. The results of the meta-analysis showed high overall surgeon satisfaction of 97% (95% CI: 92%-100%) and patient satisfaction of 95% (95% CI: 89%-99%), with a low complication rate of 3.4% (95% CI: 1.9%-5.9%). At 12 months postoperatively, a lower retention rate of 43% (95% CI: 28%-58%) was estimated in cases of acquired atrophic deformities compared with 64% (95% CI: 57%-71%) in cases of mixed deformities. Overall, autologous fat transplantation improved facial symmetry by 13% (95% CI: 8.4%-18%). CONCLUSION: Autologous fat transplantation is generally a safe and effective procedure that can compensate for facial volume deficits and improve facial symmetry but may be less effective in cases of acquired atrophic facial deformities.

Parry Romberg Syndrome: A Case Report and an Insight Into Etiology.

Parry-Romberg syndrome (PRS) is a rare degenerative disorder of unknown cause that causes slow, progressive atrophy on one side of the face. The cause may be a malfunction of the sympathetic nervous system, with or without neurological symptoms. Atrophy usually begins in childhood and progresses gradually over several years. Stabilization can take up to 20 years. There is no definitive cure for this condition, but once the condition is stabilized, reconstructive surgery of the damaged skin and soft tissue can correct the deformity. The objective of this article is to present an insight into the etiology of PRS with a case report of a 15-year-old male patient, who was diagnosed with PRS due to trauma and developed progressive hemifacial atrophy without neurological manifestations. PRS is a progressive disease that severely affects one side of the face. Because of its devastating effects on the entire body, treatment requires a multidisciplinary approach. Further research is needed to clearly understand the etiology and provide patients with accurate treatment plans.

Treatment of hemimasticatory spasm secondary to parry-romberg syndrome via partial resection of the trigeminal nerve motor branch under intraoperative neurophysiological monitoring: A case report and literature review.

Parry-Romberg syndrome (PRS) combined with hemimasticatory spasm (HMS) is a rare craniofacial disorder characterized by unilateral facial tissue atrophy with paroxysmal involuntary contractions of the jaw-closing muscles. Although a majority believe that this is a result of demyelination changes from the effect of the facial involvement of PRS on the trigeminal nerve motor branches, the mechanism of PRS is presently unclear. Moreover, the therapeutic effects of existing drugs that target PRS have not been satisfactory. For intolerable spasms of the masticatory muscles, botulinum toxin injection may temporarily relieve the symptoms of spasms. We report a case of HMS secondary to PRS that was treated via a partial resection of the trigeminal nerve motor branch under intraoperative neurophysiological monitoring.

Dental Anomalies in Parry-Romberg Syndrome: A 40-Year Retrospective Review.

OBJECTIVE: This study investigates crown and root anomalies in patients with Parry-Romberg Syndrome. DESIGN: This is a retrospective review of patients with Parry-Romberg Syndrome who were evaluated at a tertiary care center from 1980-2020. SETTING: Patients seen in the dental unit from 1980-2020. PATIENTS, PARTICIPANTS: Seventeen patients with documented Parry-Romberg Syndrome were referred for dental evaluation. MAIN OUTCOME MEASURES: All dental anomalies were documented. Root anomalies were assessed using panoramic radiographs and cone beam CT (CBCT) scans to evaluate buccal-lingual, mesio-distal, and axial measurements of hypoplastic teeth, which were compared to those of contralateral teeth. RESULTS: Findings included agenesis (29%, n = 5), hypoplastic teeth (29%, n = 5), delayed canine eruption (24%, n = 4), and mulberry molars (12%, n = 2). Of the five patients with tooth hypoplasia, four had CBCT records and the fifth had panoramic radiographs available for assessment. Axial length was always shorter in hypoplastic teeth relative to contralateral teeth, with differences ranging from 1.2-9.2 mm. Differences in crown size of hypoplastic versus contralateral teeth were unpredictable but always present. CONCLUSIONS: Patients with Parry-Romberg Syndrome can have hypoplastic roots with atypical crown morphology. A patient's specific dental anomaly will influence planning and treatment.

Measuring asymmetry in facial morphea via 3-dimensional stereophotogrammetry.

BACKGROUND: Objectively determining tissue loss in craniofacial morphea is challenging. However, 3-dimensional (3D) stereophotogrammetry is a noninvasive modality that may be a useful adjunct. OBJECTIVE: To prospectively evaluate 3D stereophotogrammetry in the assessment of craniofacial linear morphea. METHODS: Participants underwent clinical, quality-of-life, and 3D-stereophotogrammetry assessments. Traditional photographs and 3D-stereophotogrammetry images were rated as mild, moderate, or severe by 2 experts and 2 nonexperts. In addition, interrater and intrarater reliability (on delayed rescoring) were calculated. RESULTS: Of 23 patients with craniofacial morphea, 3D stereophotogrammetry detected pathologic asymmetry in 14 (20.6%) patients. Providers rated patients as more severely affected when using 3D stereophotogrammetry versus when using traditional photographs (19% severe on 3D stereophotogrammetry vs 0% severe on traditional photographs, P = .004). Qualitative ratings of both traditional and 3D images showed high inter- and intrarater reliability between experts and nonexperts alike. Physicians' Global Assessment of Damage scores correlated with mouth asymmetry (P = .0021), cheek asymmetry (P = .04), and 3D-stereophotogrammetry ratings (median, mild: 27.5 vs moderate: 46.5 vs severe: 64, P = .0152). Lower face asymmetry correlated with worse quality-of-life scores (P = .013). LIMITATIONS: Small sample size and cross-sectional design. CONCLUSION: 3D stereophotogrammetry can reliably detect and quantify asymmetry in craniofacial morphea with greater sensitivity than that observed with traditional assessment alone. 3D stereophotogrammetry may be a useful adjunct to clinical examination.

Clinical and therapeutic course in head variants of linear morphea in adults: a retrospective review.

Parry Romberg Syndrome (PRS) and en coup de sabre (ECDS) are head variants of linear morphea with functional and structural implications. This study describes the clinical course, autoimmune co-morbidities, complications, and treatment of adults with PRS/ECDS at a tertiary referral center. We retrospectively reviewed the records of all 34 adult patients with PRS/ECDS identified through billing code search and seen by dermatologists at our institution between 2015 and 2021. Eight patients (23.5%) had ECDS, 8 (23.5%) had PRS, and 18 (52.9%) had overlap. Twenty-six patients (76.5%) reported ocular, oral, and/or neurologic symptoms, and 8 (23.5%) had concomitant autoimmune/inflammatory conditions. Sixteen patients (47.1%) had a skin biopsy, and 25 (73.5%) had imaging. Forty-six MRIs were obtained, of which 6 (13.0%) reported intracranial findings and 25 (54.3%) reported disease-related connective tissue damage. Twenty-four patients (70.6%) underwent systemic treatment during their disease course per available clinical records. Seventeen patients (70.8%) had improved or stable disease upon treatment completion, with an average duration of 22.2 months. Ten patients (41.7%) reported recurrence of disease following the treatment course. To address changes to facial contour, 6 patients (17.6%) opted for procedural treatments. One patient (16.7%) experienced morphea reactivation following a filler injection performed off-immunosuppression. Compared to findings in children, our study suggests adults with PRS/ECDS are more likely to have oral and ocular complications but experience less severe neurologic symptoms. While systemic treatments appear beneficial in most adult patients with PRS/ECDS, disease may recur following discontinuation.

[Ocular involvement in Parry-Romberg syndrome]. / Porazhenie organa zreniya pri sindrome Parri­Romberga.

Parry-Romberg syndrome (PRS) is a rare degenerative disease of unknown etiology, characterized by slow progressive hemifacial atrophy of the soft tissues (subcutaneous fat, muscles), cartilage and bones. Beside hemifacial atrophy, various ophthalmic and periocular manifestations of PRS has been described. Progressive enophthalmos and eyelid changes are only some of many other symptoms, as the disease can affect all layers of the eyeball. This article reviews literature on ophthalmic manifestations of PRS and reports our own case and treatment approach for a patient with this pathology.

Association of intracranial abnormalities with the development of epilepsy and drug-resistant epilepsy in patients with Parry-Romberg syndrome.

BACKGROUND: Epilepsy represents an essential component of Parry Romberg syndrome (PRS). This study aimed to identify clinical factors that influence the development of epilepsy and drug-resistant epilepsy (DRE) in PRS. METHODS: We retrospectively reviewed the medical records of eighty patients with PRS. Data including the age of onset for PRS, history of seizures, use and timing of immunotherapy, antiseizure medication use, and EEG and brain imaging findings were reviewed. For comparison with the patients with epilepsy (PRSe+) group, we selected 18 age and sex-matched controls from the patient without epilepsy (PRSe-) cohort using propensity score matching. RESULTS: Eighteen (22.5%) had epilepsy: 12 were female, and the median age was 14.5 years (range = 6-48 years). Eleven patients developed DRE. The median latency between the onset of cutaneous manifestations and diagnosis and timing and use of immunotherapy was similar between the PRSe + and PRSe- groups. Intracranial abnormalities were commonly seen in the PRSe + group (16 vs. 2, p < 0.01). White matter disease and ipsilateral atrophy were common among the PRSe + group. Timing and use of immunotherapy, epileptiform discharges, and brain imaging abnormalities did not differ between those with DRE and without. CONCLUSIONS: The presence and degree of severity of ipsilateral brain abnormalities are risk factors for the development of epilepsy in PRS but not factors in predicting drug resistance. The timing of immunotherapy did not influence the development of PRSe + or DRE. Prospective studies are needed to identify biomarkers for epilepsy and assess the role of immunotherapy on seizure outcomes in PRSe + .

Facial spasms revealing a Parry-Romberg syndrome: A case report.

Introduction and importance: Parry-Romberg syndrome (PRS) is a rare clinical entity characterized by progressive atrophy of the hemifacial region, occasionally associated with systemic manifestations. The presence of facial muscles spasms is exceptional. Case presentation: We report the case of a young woman who presented with progressive atrophy of the right hemiface associated with vitiligo and facial muscles spasms. The diagnosis of Parry Romberg syndrome was retained. Electromyogram showed an intermittent motor unit potential. Cerebral MRI showed atrophy of the muscle and subcutaneous fat of the right hemiface. She received corticosteroid in combination with botulinum toxin injection, which stopped the spasms. Clinical discussion: It is a rare condition with a poorly understood etiology, which is responsible for the delay in diagnosis often noted. The association of this syndrome with neurological signs is exceptional and rarely described in the literature. Injection of botulinum toxin associated with corticosteroids can stop the spasms but only surgery can reduce the facial deformities. Conclusion: Parry-Romberg syndrome is a rare disease, more frequent in women. It poses a real diagnostic problem and its treatment is poorly codified.

Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.

Background: A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations. Patients and Methods: Different children aged from 1 month to 12 years were referred to our departments seeking orthopedic advice. Primarily, all received variable false diagnoses in other institutes. Two unrelated boys of one month and 12 months were falsely diagnosed as having positional plagiocephaly associated with contractures of idiopathic origin. Two unrelated boys of 14 months and 2 years were diagnosed with pseudo-hydrocephalus and non-specific syndrome, and were referred to explore their skeletal development. Two unrelated girls of 4 years old and 12 years old presented with multiple contractures were referred because of progressive scoliosis. A 4-year-old girl was referred with a false provisional diagnosis of facial diplegia. All children underwent detailed clinical, radiological and tomographic phenotypic characterizations and genetic testing, respectively. Results: Idaho syndrome (craniosynostosis associated with multiple dislocations) was the final diagnosis in the two unrelated boys with plagiocephaly and multiple contractures. Two children falsely diagnosed with pseudo-hydrocephalus and non-specific syndrome, were diagnosed with Silver-Russell syndrome (RSS). Contractural arachnodactyly Beals (CAB) was confirmed as the definitive diagnosis in the two unrelated girls with progressive scoliosis and multiple contractures. Parry-Romberg syndrome (PRS) associated with congenital lumbar kyphosis was the final diagnosis of the girl with the diagnosis of facial diplegia. Hypomethylation of ICR1 was confirmed in the RSS patients. Whole exome sequencing (WES) revealed a heterozygous mutation in the PRS patients. WES and array-CGH showed that no relevant variants or copy number variations (CNV) were identified in the CAB patients. Conclusions: On the one hand, newborn children can manifest diverse forms of abnormal craniofacial features, which are usually associated with either major or minor dysmorphic stigmata. A cleft lip/ palate is a major craniofacial malformation, and frontal bossing or a disproportionate craniofacial contour can be falsely considered as a transient plagiocephaly, which is spontaneously resolved by time. On the other hand, many physicians fall into the problem of deeming a countless number of diseases, such as contractures, as an idiopathic or non-specific syndrome. The latter stems from limited clinical experience. Therefore, failing to establish between the onset of the deformity and other inexplicit abnormal features that the patient or their immediate families or relatives carry is the final outcome. In this study, we used, for the first time, a reconstruction CT scan to further delineate the congenital disruption of the craniofacial anatomy and the other skeletal malformation complex.

Dermatologic Symptoms and Syndromes Associated with Headache.

PURPOSE OF REVIEW: Headache disorders are often accompanied by associated symptoms involving organ systems other than the central and peripheral nervous system, including the integumentary, cardiovascular, and musculoskeletal system. However, skin changes or conditions are not commonly associated with headache disorders. Recognition of possible etiologies of headache in patients with bruising, rash, or neurocutaneous disorders can help guide workup and management. The purpose of this article is to review the various dermatologic presentations associated with headache. RECENT FINDINGS: Multiple review articles and retrospective studies have noted the association between head pain with dermatologic changes including ecchymoses, inflammatory skin conditions, and neurocutaneous disorders. Postulated mechanisms include activation of the trigeminal autonomic system and involvement of similar pro-inflammatory molecules. In this review, we discuss three different classes of rashes including ecchymoses, inflammatory skin conditions, and neurocutaneous disorders, all of which have been associated with migraine and/or headache. We discuss the possible underlying pathophysiology and treatment options.